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Scurvy in the Year 2000

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Scurvy in the Year 2000 An Orange a Day Keeps the Doctor Away: Scurvy in the Year 2000 Michael Weinstein, MD*; Paul Babyn, MD‡; and Stan Zlotkin, MD* ABSTRACT. Scurvy has been known since ancient Her past medical history was remarkable for moderate global times, but the discovery of the link between the dietary developmental delay, mild facial dysmorphism, and a seizure deficiency of ascorbic acid and scurvy has dramatically disorder managed with long-term phenytoin administration. She reduced its incidence over the past half-century. Sporadic had 2 older sisters with a similar disorder, and a previous evalu- ation had not identified a known, inherited condition. reports of scurvy still occur, primarily in elderly, isolated She was admitted to a community hospital with a 2-month individuals with alcoholism. The incidence of scurvy in history of increasing bilateral knee pain and swollen, bleeding the pediatric population is very uncommon, and it is gums. There was no history of fever, weight loss, trauma, obvi- usually seen in children with severely restricted diets ously swollen joints, petechiae, or bruising. At the time of her attributable to psychiatric or developmental problems. hospitalization, the child refused to walk. She previously ambu- The condition is characterized by perifollicular petechiae lated with the aid of a walker. and bruising, gingival inflammation and bleeding, and, Investigations at that time revealed a hemoglobin of 79 g/L, ϫ 9 in children, bone disease. We describe a case of scurvy in white blood cell count of 8.9 10 /L with a normal differential ϫ 9 a 9-year-old developmentally delayed girl who had a diet count and a platelet count of 470 10 /L. A blood smear showed markedly deficient in vitamin C resulting from ex- hypochromic, microcytic red blood cells; no malignant cells were seen. The erythrocyte sedimentation rate was elevated at 62 mm/ tremely limited food preferences. She presented with hour. The C-reactive protein level was 125 mg/L (reference range: debilitating bone pain, inflammatory gingival disease, 0–8 mg/L). Radiographs of the knee showed osteopenia, and a perifollicular hyperkeratosis, and purpura. Severe hyper- bone scan initially showed increased uptake around the left knee. tension without another apparent secondary cause was She was treated presumptively for osteomyelitis with intravenous also present, which has been previously undescribed. clindamycin, but after 2 weeks of therapy, there was no improve- The signs of scurvy and hypertension resolved after ment, and a repeat bone scan was interpreted as normal. Addi- treatment with vitamin C. The diagnosis of scurvy is tional studies included a negative antinuclear and rheumatoid made on clinical and radiographic grounds, and may be factor, and normal complement, creatine kinase, calcium, phos- supported by finding reduced levels of vitamin C in phate, alkaline phosphatase, and parathyroid hormone levels. She required regular ibuprofen and codeine for analgesia. Because of serum or buffy-coat leukocytes. The response to vitamin her gingival disease, which was felt to possibly be secondary to C is dramatic. Clinicians should be aware of this poten- phenytoin, she underwent a gingivoplasty and dental extractions. tially fatal but easily curable condition that is still occa- The biopsy showed chronic inflammatory cells in the submucosa sionally encountered among children. Pediatrics 2001; without evidence of malignancy. Although in hospital, hyperten- 108(3). URL: http://www.pediatrics.org/cgi/content/full/ sion was noted with blood pressure measurements ranging from 108/3/e55; scurvy, hypertension, magnetic resonance 130 to 170/80 to 110 mm Hg. She was transferred to a tertiary care imaging, bone pain. institution for additional evaluation. On physical examination, weight and height were between the 10th and 25th percentiles for age. Her blood pressure was 160/110 ABBREVIATION. MRI, magnetic resonance imaging. mm Hg. She had mild, dysmorphic features with epicanthic folds, mid-face hypoplasia, broad nasal tip and short, broadened hands. She had markedly swollen, purple, spongy gingiva which bled 9-year-old girl with global developmental spontaneously (Fig 1). Her cardiovascular examination was nor- delay presented with signs of scurvy second- mal with no blood pressure gradient between her upper and lower extremities. There was no hepatosplenomegaly or lymphadenop- Aary to long-term ascorbic acid deficiency and athy. Musculoskeletal examination showed soft-tissue swelling of was also discovered to have severe hypertension. the distal wrists and left suprapatellar area. She had decreased This case highlights a rare disease that still exists in range of motion of her knees bilaterally with a fixed flexion the pediatric population and points to a possible contracture of 30° at the left knee. There were no joint effusions. Her skin showed follicular hyperkeratosis with perifollicular pur- association between hypertension and vitamin C de- pura of the lower extremities. Neurologic examination was nor- ficiency. Magnetic resonance imaging (MRI) findings mal. of scurvy, which have been previously unreported, A skeletal survey revealed generalized osteopenia, evidence of are described. T7-T10 vertebral compression fractures, and dense lines at the distal left femoral metaphysis. The findings were not felt to be CASE REPORT indicative of rickets, scurvy, or a storage disorder. A bone scan showed increased uptake only at sites corresponding to the ver- A 9-year-old girl was admitted to hospital because of muscu- tebral compression fractures. An MRI study showed a diffuse, loskeletal pain, inflammatory gingival disease, and hypertension. symmetrically abnormal signal involving the distal femoral me- taphyses and epiphyses, both iliac bones, distal radii, and soft tissue surrounding the knees (Fig 2). From the Departments of *Paediatrics and ‡Radiology, Hospital for Sick Initial concern was whether a malignant process was responsi- Children and University of Toronto, Toronto, Canada. ble for her presentation. A bone marrow aspirate and biopsy Received for publication Mar 8, 2001; accepted May 8, 2001. showed no evidence of malignancy or storage cells. There were no Address correspondence to Michael Weinstein, MD, Hospital for Sick Chil- stainable iron stores. Biopsy of the distal femoral metaphysis dren, Department of Paediatrics, 555 University Ave, Toronto, Canada M5G showed nonspecific fibrous changes with no evidence of malig- 1X8. E-mail: [email protected] nancy. The constellation of bone and gingival disease, follicular PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad- hyperkeratosis, and perifollicular purpura strongly suggested a emy of Pediatrics. diagnosis of scurvy. The patient’s diet consisted of water, com- http://www.pediatrics.org/cgi/content/full/108/3/Downloaded from www.aappublications.org/newse55 by PEDIATRICS guest on September Vol. 25, 108 2021 No. 3 September 2001 1of5 Fig 1. Photograph demonstrating marked gingival hypertrophy, swelling, and bleed- ing. TABLE 1. Selected Nutritive Value of Patient’s Diet* and Rec- ommended Intake Vitamin C Vitamin D Iron 2% Milk (1 cup) 2 mg 2.3 ␮g 0.12 mg Commercial chocolate 0 mg Unknown 0.72 mg puddings (3.5 oz) Heinz pureed meat (100 mL) 2 mg Unknown 1.63 mg Daily recommended nutrient 25 mg 5.5 ␮g8mg intake for age† * Source: Bowes and Church’s Food Values of Portions Commonly Used. 15th ed. New York, NY: Harper & Row; 1989. † Source: Standing Committee on the Scientific Evaluation of Dietary Reference Intakes. Food and Nutrition Board. Institute of Medicine. Washington, DC: National Academy Press; 2000 24-hour urine vanillylmandelic acid and homovanillic acid levels. Her electrocardiogram and echocardiogram showed borderline left ventricular hypertrophy. The child and family were assessed by the clinical genetics and metabolics services. The skeletal survey was not felt to be sugges- tive of a lysosomal storage disease. Investigations including a karyotype on peripheral blood, urine for oligosaccharides, muco- polysaccharides, and organic acids, leukocyte assays for ␤-galac- Fig 2. Coronal T1-weighted MRI image of the thighs demonstrat- tosidase and hexosaminidase, and blood for quantitative amino ing high signal within the bone and adjacent musculature (arrow). acids, lactate, and ammonium were normal. A skin biopsy was performed for additional fibroblast cultures. No diagnosis of the underlying condition affecting the child and her siblings was mercial chocolate puddings and cakes, occasional jarred semipu- established, and the family continues to be followed by the genet- reed foods (beef, spaghetti), and 2% milk (8 oz/d). She took no ics service. vitamin supplements. By her family’s recollection, she had not Treatment was started with 250 mg of vitamin C, 800 U of consumed fresh fruits or vegetables or fruit juices for Ͼ5 to 6 years vitamin D, iron and calcium supplementation, and 1 multivitamin because of her limited preferences. Review of the nutritional con- daily. Her family was educated about dietary modification, and tent of her diet revealed essentially no dietary source of vitamin C her blood pressure was controlled on amlodipine and nadolol. for at least several years and limited amounts of vitamin D and Within 1 week of starting vitamin supplementation, her gingival iron (Table 1). Serum ascorbic acid level was 27 ␮mol/L (normal: bleeding and perifollicular purpura resolved, gingival swelling 11–85 ␮mol/L), but the sample was taken after several weeks
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